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Journal Abstract Search

123 related items for PubMed ID: 35314173

  • 21. Increased muscle coenzyme Q10 in riboflavin responsive MADD with ETFDH gene mutations due to secondary mitochondrial proliferation.
    Wen B, Li D, Shan J, Liu S, Li W, Zhao Y, Lin P, Zheng J, Li D, Gong Y, Yan C.
    Mol Genet Metab; 2013 Jun; 109(2):154-60. PubMed ID: 23628458
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  • 23. Clinical, biochemical, and genetic spectrum of MADD in a South African cohort: an ICGNMD study.
    Bisschoff M, Smuts I, Dercksen M, Schoonen M, Vorster BC, van der Watt G, Spencer C, Naidu K, Henning F, Meldau S, McFarland R, Taylor RW, Patel K, Fassad MR, Vandrovcova J, ICGNMD Consortium, Wanders RJA, van der Westhuizen FH.
    Orphanet J Rare Dis; 2024 Jan 14; 19(1):15. PubMed ID: 38221620
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  • 24. Mutations at the flavin binding site of ETF:QO yield a MADD-like severe phenotype in Drosophila.
    Alves E, Henriques BJ, Rodrigues JV, Prudêncio P, Rocha H, Vilarinho L, Martinho RG, Gomes CM.
    Biochim Biophys Acta; 2012 Aug 14; 1822(8):1284-92. PubMed ID: 22580358
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  • 28. Patient with multiple acyl-CoA dehydrogenase deficiency disease and ETFDH mutations benefits from riboflavin therapy: a case report.
    Goh LL, Lee Y, Tan ES, Lim JSC, Lim CW, Dalan R.
    BMC Med Genomics; 2018 Apr 03; 11(1):37. PubMed ID: 29615056
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  • 31. Flavin adenine dinucleotide synthase deficiency due to FLAD1 mutation presenting as multiple acyl-CoA dehydrogenation deficiency-like disease: A case report.
    Yamada K, Ito M, Kobayashi H, Hasegawa Y, Fukuda S, Yamaguchi S, Taketani T.
    Brain Dev; 2019 Aug 03; 41(7):638-642. PubMed ID: 30982706
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  • 35. Lipid storage myopathy due to late-onset multiple Acyl-CoA dehydrogenase deficiency with novel mutations in ETFDH: A case report.
    Tian H, Zhong Y, Liu Z, Wei L, Yuan Y, Zhang Y, Wang L.
    Front Neurol; 2022 Aug 03; 13():991060. PubMed ID: 36588907
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  • 36. Multiple Acyl-CoA Dehydrogenation Deficiency (Glutaric Aciduria Type II) with a Novel Mutation of Electron Transfer Flavoprotein-Dehydrogenase in a Cat.
    Wakitani S, Torisu S, Yoshino T, Hattanda K, Yamato O, Tasaki R, Fujita H, Nishino K.
    JIMD Rep; 2014 Aug 03; 13():43-51. PubMed ID: 24142280
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  • 38. An intronic variation in SLC52A1 causes exon skipping and transient riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency.
    Mosegaard S, Bruun GH, Flyvbjerg KF, Bliksrud YT, Gregersen N, Dembic M, Annexstad E, Tangeraas T, Olsen RKJ, Andresen BS.
    Mol Genet Metab; 2017 Dec 03; 122(4):182-188. PubMed ID: 29122468
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